Down Syndrome arises from the presence of an extra chromosome, specifically chromosome 21. This genetic anomaly contributes to the aforementioned spectrum of medical and physical characteristics.

Syndromes, by definition, encompass a set of characteristics commonly shared among individuals with the same condition. These characteristics can include both physical appearance and medical complications. However, the expression of these traits varies, and it is rare for an individual to exhibit all possible symptoms.

First described by John Langdon Down in 1866, Down Syndrome affects about 1 in every 1,000 individuals and arises from the presence of an extra chromosome, specifically chromosome 21.

Not all heart conditions in children with Down Syndrome require surgical intervention. Conditions like patent ductus arteriosus, atrial septal defect and ventricular septal defect may resolve naturally without surgery.

Tetralogy of Fallot and atrioventricular septal defects always require surgery, sometimes requiring multiple operations.

​Dental Care

Good dental hygiene is essential, especially for children and adults with congenital heart disease, as poor dental health can lead to infections spreading to the heart. Therefore, regular dental check-ups are crucial.

Inform your dentist about the heart condition before any treatment. To prevent germs from entering the bloodstream and affecting the heart, a single dose of antibiotics may be given one hour prior to dental procedures.

Exercise

Exercise is beneficial, even for those with heart conditions. It improves heart function, overall well-being and is associated with increased life expectancy and reduced heart disease risk in later life. It also aids in weight control and blood pressure reduction.

Different types of exercise, such as static (e.g., weight lifting) and dynamic dynamic (e.g., running), have varying impacts on the body and heart. Children with heart conditions should consult their doctor to determine safe levels and types of exercise, especially in school settings where physical activities can be intensive.

Vaccination

Most children with heart disease can follow standard vaccinations schedule. However, those with immune deficiencies, such as DiGeorge syndrome or an isomerism, or those who are receiving immunosuppression, such as post-transplantation, may require a modified vaccination schedule.

Travel Advice

Before travelling, especially long distances or to unusual destinations:

• Have a recent medical check-up
• Ensure appropriate insurance coverage
• Carry an adequate supply of medication
• Be informed about the local healthcare quality and accessibility
• Carry relevant documentation about the heart condition  
• For cyanotic heart disease patients, be aware of potential oxygen needs during flights
• Use support stockings and take aspirin or equivalent unless your doctor advises against it
  

Diet

Special diets are not normally required for those with heart disease, but a balanced one is important. Maintaining a normal weight is crucial as excess weight increases the heart's workload.

Infection

Children with heart disease are generally not more prone to infections, although some may be susceptible to chest infections or have associated immune deficiencies, particularly those with holes in the heart (ASD, VSD, PDA). Viral infections are common and usually resolve without antibiotics, but medical advice should be sought in case of uncertainty.

Medication

Not all children with heart disease require medication. Those who do may need it for fluid reduction, aiding heart pumping, rhythm control or blood thinning.

While these medications are generally safe, side effects can occur, especially with other illnesses or medication changes. Any unusual symptoms or side-should be promptly reported to the doctor.

Pregnancy

Most women with heart disease can have a normal pregnancy and delivery. Exceptions may include those with severe cyanosis or pulmonary hypertension, where pregnancy can pose significant risks.

It is essential to seek medical advice before pregnancy so the process can be monitored, and if treatment is necessary, it can be provided early.

The risk of heart disease in offspring varies, with some evidence suggesting that vitamin intake before and during early pregnancy may reduce risks.